Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor

Report of a case

Susana Mão De Ferro, Alexandra Suspiro, Paulo Fidalgo, Pedro Lage, Paula Rodrigues, Sofia Fragoso, Inês Vitoriano, Célia Baltazar, Cristina Albuquerque, António Bettencourt, Carlos Nobre Leitão

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

Original languageEnglish
Pages (from-to)742-745
Number of pages4
JournalDiseases of the Colon and Rectum
Volume52
Issue number4
DOIs
Publication statusPublished - 1 Apr 2009

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Jejunal Neoplasms
Aggressive Fibromatosis
Phenotype
Adenoma
Neoplasms
Adenocarcinoma
Colonic Polyps
Adenomatous Polyposis Coli
Colectomy
Germ-Line Mutation
Colorectal Neoplasms

Cite this

De Ferro, Susana Mão ; Suspiro, Alexandra ; Fidalgo, Paulo ; Lage, Pedro ; Rodrigues, Paula ; Fragoso, Sofia ; Vitoriano, Inês ; Baltazar, Célia ; Albuquerque, Cristina ; Bettencourt, António ; Leitão, Carlos Nobre. / Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor : Report of a case. In: Diseases of the Colon and Rectum. 2009 ; Vol. 52, No. 4. pp. 742-745.
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abstract = "MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.",
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De Ferro, SM, Suspiro, A, Fidalgo, P, Lage, P, Rodrigues, P, Fragoso, S, Vitoriano, I, Baltazar, C, Albuquerque, C, Bettencourt, A & Leitão, CN 2009, 'Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: Report of a case', Diseases of the Colon and Rectum, vol. 52, no. 4, pp. 742-745. https://doi.org/10.1007/DCR.0b013e318199db93

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor : Report of a case. / De Ferro, Susana Mão; Suspiro, Alexandra; Fidalgo, Paulo; Lage, Pedro; Rodrigues, Paula; Fragoso, Sofia; Vitoriano, Inês; Baltazar, Célia; Albuquerque, Cristina; Bettencourt, António; Leitão, Carlos Nobre.

In: Diseases of the Colon and Rectum, Vol. 52, No. 4, 01.04.2009, p. 742-745.

Research output: Contribution to journalArticle

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T1 - Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor

T2 - Report of a case

AU - De Ferro, Susana Mão

AU - Suspiro, Alexandra

AU - Fidalgo, Paulo

AU - Lage, Pedro

AU - Rodrigues, Paula

AU - Fragoso, Sofia

AU - Vitoriano, Inês

AU - Baltazar, Célia

AU - Albuquerque, Cristina

AU - Bettencourt, António

AU - Leitão, Carlos Nobre

PY - 2009/4/1

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N2 - MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

AB - MYH-associated polyposis is an inherited autosomal recessive disease, linked to biallelic germline MYH mutations, which predisposes to the development of multiple colorectal adenomas and cancer. The colonic and extracolonic phenotype of this syndrome is very heterogeneous. We report the case of a young male patient with an aggressive MYH-associated polyposis phenotype. He presented at aged 30 years with more than 100 colonic polyps and 4 colonic adenocarcinomas. At aged 35 years, Spigelman Stage IV duodenal adenomatosis was detected. When he was 39 years old, he developed three synchronous jejunal adenocarcinomas and a mesenteric desmoid tumor. Based on this report, we believe that screening of the entire small bowel should be recommended in MYH-associated polyposis patients, especially in those with duodenal adenomas. Similar to patients with familial adenomatous polyposis, desmoid tumors also may be part of the clinical spectrum of MYH-associated polyposis and may prove to be a significant clinical problem in patients submitted to prophylactic colectomy.

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